ClinVar Miner

Submissions for variant NM_133261.3(GIPC3):c.207C>T (p.Phe69=)

gnomAD frequency: 0.00059  dbSNP: rs727504653
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155916 SCV000205627 likely benign not specified 2013-07-17 criteria provided, single submitter clinical testing Phe69Phe in Exon 1 of GIPC3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and it is not located w ithin the splice consensus sequence.
GeneDx RCV001711424 SCV001942488 benign not provided 2020-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001711424 SCV002426754 benign not provided 2025-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757966 SCV005353926 benign GIPC3-related disorder 2024-09-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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